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Author Title Type [ Year(Desc)]
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2024
Sun X, Bulekova K, Yang J, Lai M, Pitsillides AN, Liu X, Zhang Y, Guo X, Yong Q, Raffield LM, et al. Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv. 2024 .
Mack TM, Raddatz MA, Pershad Y, Nachun DC, Taylor KD, Guo X, Shuldiner AR, O'Connell JR, Kenny EE, Loos RJF, et al. Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate. Nat Aging. 2024 .
Huang Y-J, Kurniansyah N, Goodman MO, Spitzer BW, Wang J, Stilp A, Laurie C, de Vries PS, Chen H, Min Y-I, et al. The expected polygenic risk score (ePRS) framework: an equitable metric for quantifying polygenetic risk via modeling of ancestral makeup. medRxiv. 2024 .
Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SSamir, Lebo MS, Nagy A, et al. Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol. JAMA Cardiol. 2024 .
Nagarajan P, Kurniansyah N, Lee J, Gharib SA, Xu Y, Zhang Y, Spitzer B, Faquih T, Zhou H, Boerwinkle E, et al. Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype. medRxiv. 2024 .
Weinstock JS, Chaudhry SA, Ioannou M, Viskadourou M, Reventun P, Jakubek YA, L Liggett A, Laurie C, Broome JG, Khan A, et al. The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations. medRxiv. 2024 .
Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GEM, Kanoni S, et al. Genetic drivers of heterogeneity in type 2 diabetes pathophysiology. Nature. 2024 .
Keaton JM, Kamali Z, Xie T, Vaez A, Williams A, Goleva SB, Ani A, Evangelou E, Hellwege JN, Yengo L, et al. Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. Nat Genet. 2024 .
Yu Z, Vromman A, Nguyen NQuynh H, Schuermans A, Rentz T, Vellarikkal SK, Uddin MMesbah, Niroula A, Griffin G, Honigberg MC, et al. Human Plasma Proteomic Profile of Clonal Hematopoiesis. bioRxiv. 2024 .
Nagarajan P, Winkler TW, Bentley AR, Miller CL, Kraja AT, Schwander K, Lee S, Wang W, Brown MR, Morrison JL, et al. A Large-Scale Genome-Wide Study of Gene-Sleep Duration Interactions for Blood Pressure in 811,405 Individuals from Diverse Populations. medRxiv. 2024 .
Hrytsenko Y, Shea B, Elgart M, Kurniansyah N, Lyons G, Morrison AC, Carson AP, Haring B, Mitchell BD, Psaty BM, et al. Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores. Sci Rep. 2024 ;14(1):12436.
Lundin JI, Peters U, Hu Y, Ammous F, Avery CL, Benjamin EJ, Bis JC, Brody JA, Carlson C, Cushman M, et al. Methylation patterns associated with C-reactive protein in racially and ethnically diverse populations. Epigenetics. 2024 ;19(1):2333668.
Verma SS, Gudiseva HV, Chavali VRM, Salowe RJ, Bradford Y, Guare L, Lucas A, Collins DW, Vrathasha V, Nair RM, et al. A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma. Cell. 2024 ;187(2):464-480.e10.
Rocheleau G, Clarke SL, Auguste G, Hasbani NR, Morrison AC, Heath AS, Bielak LF, Iyer KR, Young EP, Stitziel NO, et al. Rare variant contribution to the heritability of coronary artery disease. Nat Commun. 2024 ;15(1):8741.
Jones AC, Patki A, Srinivasasainagendra V, Tiwari HK, Armstrong ND, Chaudhary NS, Limdi NA, Hidalgo BA, Davis B, Cimino JJ, et al. Single-Ancestry versus Multi-Ancestry Polygenic Risk Scores for CKD in Black American Populations. J Am Soc Nephrol. 2024 .
Kwak SHeon, Hernandez-Cancela RB, DiCorpo DA, Condon DE, Merino J, Wu P, Brody JA, Yao J, Guo X, Ahmadizar F, et al. Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People With Type 2 Diabetes. Diabetes Care. 2024 .
Scholz M, Horn K, Pott J, Wuttke M, Kühnapfel A, M Nasr K, Kirsten H, Li Y, Hoppmann A, Gorski M, et al. X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements. Nat Commun. 2024 ;15(1):586.
2025
Shetty NS, Gaonkar M, Pampana A, Patel N, Morrison AC, Reiner AP, Carson AP, Yu B, Psaty BM, Kooperberg C, et al. Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers. JACC Heart Fail. 2025 ;13(1):91-101.
Henry A, Mo X, Finan C, Chaffin MD, Speed D, Issa H, Denaxas S, Ware JS, Zheng SL, Mälarstig A, et al. Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes. Nat Genet. 2025 .
Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett DK, Barnes K, et al. Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. Am J Hum Genet. 2025 ;112(2):276-290.
Lee S, Miller CL, Bentley AR, Brown MR, Nagarajan P, Noordam R, Morrison J, Schwander K, Westerman K, Kho M, et al. A Large-Scale Genome-wide Association Study of Blood Pressure Accounting for Gene-Depressive Symptomatology Interactions in 564,680 Individuals from Diverse Populations. Res Sq. 2025 .
Nagarajan P, Winkler TW, Bentley AR, Miller CL, Kraja AT, Schwander K, Lee S, Wang W, Brown MR, Morrison JL, et al. A large-scale genome-wide study of gene-sleep duration interactions for blood pressure in 811,405 individuals from diverse populations. Mol Psychiatry. 2025 .
Roselli C, Surakka I, Olesen MS, Sveinbjornsson G, Marston NA, Choi SHoan, Holm H, Chaffin M, Gudbjartsson D, Hill MC, et al. Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases. Nat Genet. 2025 ;57(3):539-547.
Hu Y, Haessler J, Lundin JI, Darst BF, Whitsel EA, Grove M, Guan W, Xia R, Szeto M, Raffield LM, et al. Methylome-wide association analyses of lipids and modifying effects of behavioral factors in diverse race and ethnicity participants. Clin Epigenetics. 2025 ;17(1):54.

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